Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
MYL2 (myosin, light chain 2, regulatory, cardiac, slow)
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All variants in the MYL2 gene
The variants shown are described using the NM_000432.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Type
: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:
Substitution
Deletion
Duplication
Insertion
Inversion
Insertion/Deletion
Translocation
Other/Complex
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
ClassClinical
: ClassClinical
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Arg
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^p.(Arg
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=""
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!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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33 entries on 1 page. Showing entries 1 - 33.
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How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Type
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Variant remarks
ClassClinical
Owner
./.
02
c.37G>A
-
p.Ala13Thr
human cosmid
-
GenBank
MYL2_00003
-
The amino acid that is mutated, as well as the flanking sequence, shows strong evolutionary conservation. The individual with the Ala13Thr mutation was strikingly similar to that seen in patients with ELC mutations in that is showed the pronounced mid cavity obstruction.
-
Qi Ming
./.
02
c.37G>A
-
p.Ala13Thr
BL21 expression host cells; Sf9 cells
-
GenBank
MYL2_00003
-
A13T mutation, located near the phosphorylation site (Ser-15) of the human cardiac regulatory light chain, had 3-fold lower KCa than wild-type light chain, whereas phosphorylation of this mutant increased the Ca2+ affinity 6-fold. Phosphorylated A13T demonstrated a 15-fold greater affinity for Ca2+ than phosphorylated HCRLC-WT, whereas nonphosphorylated A13T bound Ca2+ with a 3-fold lower affinity than nonphosphorylated-WT. The binding of Ca2+ to the A13T mutant, which had the highesalpha-helical content among all FHC mutants in the apo-state, caused a decrease (not increase) in it's alpha-helical content from 29% to 25%.
-
Qi Ming
./.
02
c.37G>A
-
p.Ala13Thr
Blood
-
GenBank
MYL2_00003
-
No other mutations were identified in this family in the additional seven FHC genes screened. There was no family history of sudden death.
-
Qi Ming
./.
02
c.37G>A
-
p.Ala13Thr
Blood
-
GenBank
MYL2_00003
-
The present results suggest that either the MYL2 mutation or the MYH7 mutation alone may cause HCM respectively, but the presence of both MYL2 and the MYH7 mutation may result in a more severe disease than either mutation alone as seen in the case of the proband.
-
Qi Ming
./.
02
c.52T>C
-
p.Phe18Leu
Blood
-
GenBank
MYL2_00001
-
The Phe18Leu mutation was found in all clinically affected patients, in four unaffected, and in none of the three individuals with
-
Qi Ming
./.
02
c.52T>C
-
p.Phe18Leu
Human cosmid
-
GenBank
MYL2_00001
-
Detected from the mutations in the regulatory light chain. The amino acids that are mutated, as well as he flanking sequence, show strong evolutionary conservation. The cardiac morphology in three patients from two unrelated families with the Glu22Lys mutation was strikingly similar to that seen in patients with ELC mutation.
-
Qi Ming
./.
02
c.54C>A
-
p.Phe18Leu
BL21 expression host cells; Sf9 cells
-
GenBank
MYL2_00005
-
(The article doesn't mention if it's c.54C>A or c.54C>G.) Associated with a typical form of hypertrophic cardiomyopathy, which causes increased left ventricular wall thickness and abnormal electrocardiograph find- ings with no mid-cavity obliteration; decreased the Ca2+ binding affinity ~3-fold compared with HCRLC-WT. No effect of phosphorylation on Ca2+ binding to F18L was observed.
-
Qi Ming
./.
02
c.54C>A
-
p.Phe18Leu
Blood
-
GenBank
MYL2_00005
-
MYL2 mutations are predicted to alter the phosphorylation site and the Ca2+ binding properties. Distribution of the disease genes of the full 197 case series was as follows: MYBPC3, 26%; MYH7, 25%; TNNT2, 4%; TNNI3, 4%; MYL2, 2.5%; and MYL<0.5%.
-
Qi Ming
./.
02
c.59T>C
-
p.Met20Thr
unknown
-
GenBank
MYL2_00023
NA
-
-
Qi Ming
./.
02
c.64G>A
-
p.Glu22Lys
BL21 expression host cells; Sf9 cells
-
GenBank
MYL2_00006
-
The KCa value for E22K was decreased be ~17-fold compared with the wild-type light chain. Was Associated with a particular subtype of cardiac hypertrophy defined by mid-left ventricular obstruction. The phosphorylation of the FHC mutants affected their Ca2+ binding properties and prevented the E22K mutant from becoming phosphorylated. The nonphosphorylated E22K migrates slower than the nonphosphorylated wild-type HCRLC. E22K mutation results in an increase in the alpha-helical content of HCRLC from 18% to 24%.
-
Qi Ming
./.
02
c.64G>A
-
p.Glu22Lys
Blood
-
GenBank
MYL2_00006
-
This base change caused a loss of one of two normal Taq I restriction sites in the exon 2 amplimer allowing its independent confirmation by restriction enzyme digestion.
-
Qi Ming
./.
02
c.64G>A
-
p.Glu22Lys
BL21 expression host cells
-
GenBank
MYL2_00006
-
Affect the Ca2+ ability, the Ca2+sensitivity of ATPase activity and recovered force.
-
Qi Ming
./.
03
c.132T>C
-
p.Ile44Ile
Blood
-
GenBank
MYL2_00012
-
Five more frequent SNPs were located in the exon flanking regions of introns 4 and 5 of MYL2 (three nucleotide substitutions, one insertion and one deletion).
-
Qi Ming
./.
03
c.141C>A
-
p.Asn47Lys
Blood
-
GenBank
MYL2_00011
-
No other mutations were identified in this patient in the additional seven FHC genes screened. There was no family history of sudden death.
-
Qi Ming
./.
03
c.141C>A
-
p.Asn47Lys
BL21 expression host cells
-
GenBank
MYL2_00011
-
Affect the Ca2+ ability, the Ca2+sensitivity of ATPase activity and recovered force.
-
Qi Ming
./.
03
c.169G>C
-
p.Gly57Arg
unknown
-
GenBank
MYL2_00022
NA
-
-
Qi Ming
./.
04
c.172_173insAG
-
p.Arg58GlnfsX3
unknown
-
GenBank
MYL2_00021
NA
-
-
Qi Ming
./.
04
c.173G>A
-
p.Arg58Gln
Blood
-
GenBank
MYL2_00002
-
The mutation Arg58Gln was found in all affected subjects, in three with
-
Qi Ming
./.
04
c.173G>A
-
p.Arg58Gln
BL21 expression host cells; Sf9 cells
-
GenBank
MYL2_00002
-
Associated with a typical form of hypertrophic cardiomyopathy, which causes increased left ventricular wall thickness and abnormal electrocardiograph findings with no mid-cavity obliteration. Ca2+ binding to the R58Q mutant was restored upon phosphorylation. The R58Q mutation completely impaired Ca2+ binding (did not bind Ca2+ in the nonphosphorylated state but did bind Ca2+ when phosphorylated) The R58Q mutant did not bind Ca2+ in its nonphosphorylated form, and Ca2+ did not significantly affect its alpha-helical content. However, the phosphorylation restored its Ca2+ binding and the amount of alpha-helical content greatly increased on binding of Ca2+ to phosphorylated R58Q.
-
Qi Ming
./.
04
c.173G>A
-
p.Arg58Gln
Blood
-
GenBank
MYL2_00002
-
The Arg58Gln mutation was not observed in 210 control alleles subjected to SSCP analysis or in proband
-
Qi Ming
./.
04
c.173G>A
-
p.Arg58Gln
Blood
-
GenBank
MYL2_00002
-
MYL2 mutations are predicted to alter the phosphorylation site and the Ca2+ binding properties. Distribution of the disease genes of the full 197 case series was as follows: MYBPC3, 26%; MYH7, 25%; TNNT2, 4%; TNNI3, 4%; MYL2, 2.5%; and MYL<0.5%.
-
Qi Ming
./.
04
c.173G>A
-
p.Arg58Gln
BL21 expression host cells
-
GenBank
MYL2_00002
-
Affect the Ca2+ ability, the Ca2+sensitivity of ATPase activity and recovered force.
-
Qi Ming
./.
04
c.256T>C
-
p.Phe86Leu
unknown
-
GenBank
MYL2_00020
NA
-
-
Qi Ming
./.
05
c.275-2A>G
-
-
Blood
-
GenBank
MYL2_00013
-
MYL2 mutations are predicted to alter the phosphorylation site and the Ca2+ binding properties. Distribution of the disease genes of the full 197 case series was as follows: MYBPC3, 26%; MYH7, 25%; TNNT2, 4%; TNNI3, 4%; MYL2, 2.5%; and MYL<0.5%.
-
Qi Ming
./.
05
c.283C>G
-
p.Pro95Ala
BL21 expression host cells; Sf9 cells
-
GenBank
MYL2_00007
-
Associated with a particular subtype of cardiac hypertrophy defined by mid-left ventricular obstruction; decreased the Ca2+ binding affinity 3-fold compared with HCRLC-WT. P95A mutant also had an increase in alpha-helical content upon Ca2+ binding.
-
Qi Ming
./.
05
c.283C>G
-
p.Pro95Ala
BL21 expression host cells
-
GenBank
MYL2_00007
-
Affect the Ca2+ ability, the Ca2+sensitivity of ATPase activity and recovered force.
-
Qi Ming
./.
05
c.284C>G
-
p.Pro95Arg
Human cosmid
-
GenBank
MYL2_00004
-
Shows strong evolutionary conservation. The Pro94Arg mutations inhuman RLC map to the interface between the COOH- and NH2 terminal domains of the RLC.
-
Qi Ming
./.
06
c.354-1G>C
-
-
Blood
-
GenBank
MYL2_00014
-
-
-
Qi Ming
./.
06
c.359G>A
-
p.Arg120Gln
unknown
-
GenBank
MYL2_00019
NA
-
-
Qi Ming
./.
06
c.380C>T
-
p.Ala127Val
unknown
-
GenBank
MYL2_00018
NA
-
-
Qi Ming
./.
06
c.401A>C
-
p.Glu134Ala
unknown
-
GenBank
MYL2_00017
NA
-
-
Qi Ming
./.
07
c.418G>A
-
p.Ala140Thr
unknown
-
GenBank
MYL2_00016
NA
-
-
Qi Ming
./.
07
c.459G>C
-
p.Lys153Asn
unknown
-
GenBank
MYL2_00015
NA
-
-
Qi Ming
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